Amsterdam UMC (locatie VUmc KLG)
| Aandoening | Gen | Details aandoening (OMIM) |
| Basaal Cel Nevus (Gorlin) syndroom | PTCH1 | 601309 |
| Birt-Hogg-Dubé (BHD) syndroom | FLCN | 607273 |
| Borst- en ovariumkanker | BRCA1 | 113705 |
| Borst- en ovariumkanker | BRCA2 | 600185 |
| Borst- en ovariumkanker (CHEK2mutatie c.1100delC) | CHEK2 | 604373 |
| Borst- en ovariumkanker | PALB2 | 610355 |
| Borst- en ovariumkanker | RAD51C | 602774 |
| Darmkanker, Lynch syndroom | MLH1 | 120436 |
| Darmkanker, Lynch syndroom | MSH2 | 609309 |
| Darmkanker, Lynch syndroom | MSH6 | 600678 |
| Darmkanker, Lynch syndroom | PMS2 | 600259 |
| Darmkanker | MUTYH | 604933 |
| Dementie - ALS | Zie aanvraagformulier | 612069 |
| Epilepsie | Zie aanvraagformulier | 613721 |
| Li-Fraumeni syndroom | TP53 | 191170 |
| Neurodegeneratie - NBIA | Zie aanvraagformulier | 300894 |
| Obesitas, severe obesity | MC4R | 601665 |
| Pancreascarcinoom | BRCA1 | 113705 |
| Pancreascarcinoom | BRCA2 | 600185 |
| Pancreascarcinoom | PALB2 | 610355 |
| Parkinson | Zie aanvraagformulier | 600116 |
| Peutz-Jeghers syndroom | STK11 | 602216 |
| adult-onset demyelinating leukodystrophy | LMNB1 | 150340 |
| Pelizaeus-Merzbacher, ziekte van | PLP1 | 300401 |
| Pelizaeus-Merzbacher-like disease | GJC2 | 608803 |
| Hypomyelination of Early Myelinating Structures | PLP1 | 300401 |
| Spastische paraplegia, X-gebonden type 2 | PLP1 | 300401 |
| Spastische paraplegia, type 35 | FA2H | 611026 |
| Hypomyelinating leukodystrophy 3 | AIMP1 | 603605 |
| Hypomyelinating leukodystrophy 4 | HSPD1 | 118190 |
| Hypomyelinating leukodystrophy 5 | FAM126A | 610531 |
| Hypomyelinating leukodystrophy 6 | TUBB4A | 602662 |
| hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum (founder mutation NM_016617.2(UFM1): c.-155_-153del p.?) | UFM1 | 610553 |
| Hypomyelinating leukodystrophy 7 | POLR3A | 614258 |
| Hypomyelinating leukodystrophy 8 | POLR3B | 614366 |
| Hypomyelinating leukodystrophy 11 | POLR1C | 610060 |
| ypomyelinating leukodystrophy | TMEM106B | 613413 |
| X-linked Hypomyelination with Spondylometaphyseal Dysplasia (exon 7 van NM_004208.3(AIFM1)) | AIFM1 | 300169 |
| Hereditary diffuse leukoencephalopathy with spheroids | CSF1R | 164770 |
| Aicardi-Goutières syndroom | ADAR | 146920 |
| Aicardi-Goutières syndroom | IFIH1 | 606951 |
| Aicardi-Goutières syndroom | RNASEH2A | 606034 |
| Aicardi-Goutières syndroom | RNASEH2B | 610326 |
| Aicardi-Goutières syndroom | RNASEH2C | 610330 |
| Aicardi-Goutières syndroom | SAMHD1 | 606754 |
| Aicardi-Goutières syndroom | TREX1 | 606609 |
| Leukoencephalopathy, cystic, without megalencephaly | RNASET2 | 612944 |
| Leukoencephalopathy with ataxia | CLCN2 | 600570 |
| Cerebroretinal microangiopathy with calcifications and cysts | CTC1 | 613129 |
| leukoencephalopathy, brain calcifications, and cysts | SNORD118 | 616663 |
| Interstitiële longziekten | ABCA3 | 601615 |
| Interstitiële longziekten | FOXF1 | 601089 |
| Interstitiële longziekten | ITGA3 | 605025 |
| Interstitiële longziekten | SFTPB | 178640 |
| Interstitiële longziekten | SFTPC | 178620 |
| Autisme spectrum stoornis | SHANK3 | 606230 |
| Autisme spectrum stoornis | HEPACAM | 611642 |
| Autisme spectrum stoornis | AUTS2 | 607270 |
| Blepharophimosis, ptosis, en epicanthuis inversus syndroom | FOXL2 | 605597 |
| Carpenter syndroom | RAB23 | 606144 |
| Van der Woude syndroom | IRF6 | 607199 |
| DiGeorge syndroom | 22q11 | 611867 |
| Apert syndroom | FGFR2 | 176943 |
| Crouzon syndroom | FGFR2 | 176943 |
| Pfeiffer syndroom | FGFR2 | 176943 |
| Saethre-Chotzen | FGFR2 | 176943 |
| Saethre-Chotzen | TWIST1 | 601622 |
| Achondroplasie | FGFR3 | 134934 |
| Hypochondroplasie | FGFR3 | 134934 |
| Thanatofore dysplasie | FGFR3 | 134934 |
| Léri-Weill dyschondrosteosis | SHOX | 312865 |
| Langer mesomele dysplasie | SHOX | 312865 |
| idiopathic short stature | SHOX | 312865 |
| Roberts syndroom | ESCO2 | 609353 |
|
Congenital bilateral absence of vas deferens (CBAVD) |
CFTR | 602421 |
| Cystic fibrosis (CBAVD) | CFTR | 602421 |
| Foetale akinesie | MUSK | 601296 |
| Hyperferritinemie-cataract syndroom | FTL | 134790 |
| Primair ciliaire dyskinesie (CCDC114, ‘Volendamse mutatie’) | CCDC114 | 615038 |
| Pulmonale arteriële hypertensie, idiopatische | BMPR2 | 600799 |
| Pulmonale arteriële hypertensie, idiopatische | SMAD9 | 603295 |
| Supravalvar aortic stenosis | ELN | 130160 |
| Williams-Beuren syndroom | ELN | 130160 |
| Cutis laxa | ELN | 130160 |
| Marfan syndroom | FBN1 | 134797 |
| Ehlers-Danlos syndroom, vasculair type | COL3A1 | 120180 |
| Osteogenesis imperfecta | COL1A1 | 120150 |
| Osteogenesis imperfecta | COL1A2 | 120160 |
| Fibrodysplasia Ossificans Progressiva, ACVR1-mutatie c.617G>A p.(Arg206His) | ACVR1 | 102576 |
| Porencefalie | COL4A1 | 120130 |
| Porencefalie | COL4A2 | 120090 |
| Schmid metaphyseal chondrodysplasie | COL10A1 | 120110 |
| Alzheimer, ziekte van | PSEN1 | 104311 |
| Alzheimer, ziekte van | PSEN2 | 600759 |
| Alzheimer, ziekte van | APP | 104760 |
| Fanconi anemie | FANCA | 607139 |
| Frontotemporale dementie | MAPT | 157140 |
| Frontotemporale dementie | GRN | 138945 |
| Frontotemporale dementie | PSEN1 | 104311 |
| Frontotemporale dementie | CHMP2B | 609512 |
| Parkinson, ziekte van | PARK2 | 602544 |
| Parkinson, ziekte van | PARK7 | 602533 |
| Parkinson, ziekte van | PINK1 | 608309 |
| Parkinson, ziekte van | SNCA | 163890 |
| Parkinson, ziekte van | LRRK2 | 609007 |
